Variant information
Systematic Name | c.1135_1142del8 |
---|---|
Protein name | p.Pro379fs |
Mutation type | frameshift insertion or deletion |
Domain | C-term |
Pathogenicity | Mutation associated with disease |
Proband information
Matching entries in the proband database
No: | Systematic Name | Protein name | Mutation type | Domain | Pathogenicity | Gender | Phenotype | Proband id | References |
---|---|---|---|---|---|---|---|---|---|
1 | c.1135_1142del8 | p.Pro379fs | frameshift insertion or deletion | C-term | Mutation associated with disease | Female | Not Rett synd. | 6669 | ::: |
2 | c.1135_1142del8 | p.Pro379fs | frameshift insertion or deletion | C-term | Mutation associated with disease | Female | Not Rett synd. | 6668 | ::: |